Variant #0010440494 (NC_000017.10:g.27898784T>G, NM_001085454.1:c.*2936A>C (GIT1))

Chromosome 17
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.27898784T>G
DB-ID -
dbSNP ID rs773270029
gnomAD frequency 2/245940
gnomAD homozygote count 0/122968
Average frequency (gnomAD v.2.1.1) Retrieve
Database submission license No license selected
Created by LOVD
Date created 2017-02-27 00:00:00 +01:00 (CET)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
GIT1 NM_001085454.1 ./. c.*2936A>C r.(=) p.(=)
GIT1 NM_014030.3 ./. c.*2936A>C r.(=) p.(=)
TP53I13 NM_138349.2 ./. c.312+47T>G r.(=) p.(=)
ABHD15 NM_198147.2 ./. c.-4800A>C r.(=) p.(=)